ArticleJournal of inherited metabolic disease2001
Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency.
Article in Journal of inherited metabolic disease, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 48 citations in OpenAlex.
- [Succinyl CoA:3 oxoacid CoA transferase deficiency: A case report].Revista medica del Instituto Mexicano del Seguro Social · 2023Article
- A Novel Mutation in the OXCT1 Gene Causing Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT) Deficiency Starting with Neurologic Manifestations.Iranian journal of child neurology · 2023Article
- Prenatal risk factors and genetic causes of ADHD in children.World journal of pediatrics : WJP · 2022Review
- A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound HeterozygousYonsei medical journal · 2019Article
- A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in theJournal of pediatric intensive care · 2018Article
- Biological responses to core-shell-structured FeInternational journal of nanomedicine · 2018Article
- Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.Journal of inherited metabolic disease · 2017Article
- Multi-dimensional Roles of Ketone Bodies in Fuel Metabolism, Signaling, and Therapeutics.Cell metabolism · 2017Review
- Can psychiatric childhood disorders be due to inborn errors of metabolism?European child & adolescent psychiatry · 2017Review
- Article
- β-Hydroxybutyrate in the Brain: One Molecule, Multiple Mechanisms.Neurochemical research · 2017Review
- Ketone body metabolism and its defects.Journal of inherited metabolic disease · 2014Review
- A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.Journal of inherited metabolic disease · 2013Article
- Impact of peripheral ketolytic deficiency on hepatic ketogenesis and gluconeogenesis during the transition to birth.The Journal of biological chemistry · 2013Article
- Ketone body metabolism and cardiovascular disease.American journal of physiology. Heart and circulatory physiology · 2013Review
- Successful adaptation to ketosis by mice with tissue-specific deficiency of ketone body oxidation.American journal of physiology. Endocrinology and metabolism · 2013Article
- Obligate role for ketone body oxidation in neonatal metabolic homeostasis.The Journal of biological chemistry · 2011Article
- Identification of lysine succinylation as a new post-translational modification.Nature chemical biology · 2011Article
- A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.Journal of inherited metabolic disease · 2010Article
- Evaluation of diagnostic fasting in the investigation of hypoglycemia in children omani experienc.Oman medical journal · 2007Article
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Succinyl-CoA: 3-oxoacid CoA-transferase (SCOT) deficiency is an inborn error of ketone body utilization, characterized by intermittent ketoacidotic crises and persistent ketosis. The diagnosis was suspected in a patient who presented with hypoglycaemia, ketoacidosis and coma at 4 days of age. The hypoglycaemic tendency was only observed during the first month of life. A novel macromolecular labelling assay in cultured skin fibroblasts using D-3-hydroxy[3-14C]butyrate supported the diagnosis. Subsequently, 9% residual SCOT activity and undetectable cross-reactive protein were noted in fibroblasts and the patient was found to be homozygous for the G324E SCOT gene mutation. By 7 years of age, recurrent episodes of ketoacidosis superimposed on persistent hyperketonaemia had resulted in over 25 hospitalizations requiring intravenous fluid, glucose and sodium bicarbonate therapy. He has had normal growth but developmental delay and attention deficit-hyperactivity disorder. A continuous intravenous glucose infusion at 38 microlmol (6.8 mg)/kg per min reduced plasma total ketone levels from greater than 1.5 mmol/L to less than 0.5 mmol/L after 48 h. This indicates that patients with SCOT deficiency do not always manifest ketosis with administration of a sufficient amount of carbohydrates, but that even under such conditions hyperketonaemia is difficult to eliminate completely. The presence of hypoglycaemia does not exclude the diagnosis of SCOT deficiency in infancy.
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